(Q33675503)

English

Cartilage-hair hypoplasia

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

Cartilage-hair hypoplasia (English)

1 reference

Europe PubMed Central

28 July 2017

1 reference

based on heuristic

inferred from title

Albert de la Chapelle

3

object named as

de la Chapelle A

1 reference

Europe PubMed Central

28 July 2017

author name string

Mäkitie O

1

1 reference

Europe PubMed Central

28 July 2017

Sulisalo T

2

1 reference

Europe PubMed Central

28 July 2017

Kaitila I

4

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 January 1995

1 reference

Europe PubMed Central

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

32

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Europe PubMed Central

28 July 2017

1

1 reference

Europe PubMed Central

28 July 2017

39-43

1 reference

Europe PubMed Central

28 July 2017

Mutations of Bacteria from Virus Sensitivity to Virus Resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Low segregation ratios in autosomal recessive disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Mutations of the RET proto-oncogene in Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Hirschsprung's Disease Associated with a Variant Form of Achondroplasia, in Sister and Brother

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Cartilage hair hypoplasia: immunological aspects and their clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Chronic enteric virus infection in two T-cell immunodeficient children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Magnetic resonance imaging of the brain structures in the posterior fossa in retarded autistic children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

In vitro T- and B-cell reactivity in cartilage hair hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

21 June 2018

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

28 July 2018

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

30 October 2018

McKusick's dwarfism and resistant Hodgkin's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050177

30 October 2018

Immunologic studies of cartilage-hair hypoplasia in the Amish

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hodgkin's lymphoma in a child with cartilage-hair hypoplasia: case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Familial dystrophic nanism with Hirschsprung's disease]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Blackfan-diamond anemia associated with multiple malformations]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Growth in cartilage-hair hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cellular and humoral immmunity in cartilage-hair hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoplasia of cartilage and hair with combined immune deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7897625

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.32.1.39

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

ResearchGate publication ID

0 references

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